Canonical Allele Identifier: CA2662129208

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576492T>C , CM000664.2:g.178576492T>C GRCh38
NC_000002.11:g.179441219T>C , CM000664.1:g.179441219T>C GRCh37
NC_000002.10:g.179149465T>C NCBI36
NG_011618.3:g.259311A>G , LRG_391:g.259311A>G
NG_051363.1:g.58666T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62011+37A>G (TTN) ENSP00000343764.6:n.62011+37A>G
ENST00000342175.11:c.43096+37A>G (TTN) ENSP00000340554.6:n.43096+37A>G
ENST00000359218.10:c.42895+37A>G (TTN) ENSP00000352154.5:n.42895+37A>G
ENST00000342175.10:c.43096+37A>G (TTN) ENSP00000340554.6:n.43096+37A>G
ENST00000342992.10:c.62011+37A>G (TTN) ENSP00000343764.6:n.62011+37A>G
ENST00000359218.9:c.42895+37A>G (TTN) ENSP00000352154.5:n.42895+37A>G
ENST00000460472.6:c.42520+37A>G (TTN) ENSP00000434586.1:n.42520+37A>G
ENST00000589042.5:c.69715+37A>G (TTN) MANE Select ENSP00000467141.1:n.69715+37A>G
ENST00000591111.5:c.64792+37A>G (TTN) ENSP00000465570.1:n.64792+37A>G
ENST00000615779.4:c.64792+37A>G (TTN) ENSP00000483597.1:n.64792+37A>G
NM_001256850.1:c.64792+37A>G (TTN) NP_001243779.1:n.64792+37A>G
NM_001267550.2:c.69715+37A>G (TTN) MANE Select NP_001254479.2:n.69715+37A>G
NM_003319.4:c.42520+37A>G (TTN) NP_003310.4:n.42520+37A>G
NM_133378.4:c.62011+37A>G (TTN) NP_596869.4:n.62011+37A>G
NM_133432.3:c.42895+37A>G (TTN) NP_597676.3:n.42895+37A>G
NM_133437.4:c.43096+37A>G (TTN) NP_597681.4:n.43096+37A>G
NR_038271.1:n.596+5043T>C (TTN-AS1)
NR_038272.1:n.2044-6080T>C (TTN-AS1)
XM_011511729.1:c.68812+37A>G (TTN) XP_011510031.1:n.68812+37A>G
XM_011511730.1:c.42706+37A>G (TTN) XP_011510032.1:n.42706+37A>G
XM_011511731.1:c.42565+37A>G (TTN) XP_011510033.1:n.42565+37A>G
XM_017004819.1:c.68608+37A>G (TTN) XP_016860308.1:n.68608+37A>G
XM_017004820.1:c.64006+37A>G (TTN) XP_016860309.1:n.64006+37A>G
XM_017004821.1:c.64003+37A>G (TTN) XP_016860310.1:n.64003+37A>G
XM_017004822.1:c.61045+37A>G (TTN) XP_016860311.1:n.61045+37A>G
XM_017004823.1:c.42661+37A>G (TTN) XP_016860312.1:n.42661+37A>G
XM_024453094.1:c.64156+37A>G (TTN) XP_024308862.1:n.64156+37A>G
XM_024453095.1:c.64153+37A>G (TTN) XP_024308863.1:n.64153+37A>G
XM_024453096.1:c.63586+37A>G (TTN) XP_024308864.1:n.63586+37A>G
XM_024453097.1:c.60928+37A>G (TTN) XP_024308865.1:n.60928+37A>G
XM_024453098.1:c.60847+37A>G (TTN) XP_024308866.1:n.60847+37A>G
XM_024453099.1:c.42610+37A>G (TTN) XP_024308867.1:n.42610+37A>G
XM_024453100.1:c.32464+37A>G (TTN) XP_024308868.1:n.32464+37A>G